Newborn Screening: 50 Years of Saving, Changing Lives

Tuesday, April 23, 2013 | 06:06am

NASHVILLE – For the past half-century, millions of babies across America have been getting their heels pricked for a tiny drop of blood. The stick is part of a process known as newborn screening, which helps identify health problems quickly and has saved countless children from a variety of lifelong disabilities.

Newborn screening was developed by Robert Guthrie, MD, a researcher who was troubled by the early childhood health problems of his son and a niece. Guthrie developed a method in the late 1950s and early 1960s to analyze a spot of dried blood to identify a condition known as phenylketonuria. Over time, the process was gradually improved to identify other conditions. In the 1990s, the emergence of new technology, tandem mass spectrometry, allowed a single drop of blood to reveal dozens of other health challenges.

Nationally there is a recommended panel of 31 newborn medical conditions that can be checked through newborn screenings. The Tennessee Department of Health State Laboratory, which began its newborn screening program in 1968, now has a panel of 54 screenings. Dried blood spots are collected 24 hours after birth and the State Lab receives these usually within three days following birth and should receive the majority no later than seven days. Samples are carefully analyzed and clinicians are provided results so parents can be informed about their baby’s condition and work can begin, if necessary, to address a problem.

“The early diagnosis of disorders allows clinicians and parents opportunities to begin timely treatment strategies that can eliminate or reduce the severity of health problems,” said TDH Commissioner John Dreyzehner, MD, MPH. “No parent wants to learn there is an issue, but early knowledge is critical in saving and improving lives. We believe the screenings and the rapid follow-up we assure for positive screens are among the most important services we provide to Tennesseans every day.”

Each year, four million newborns are screened in the U.S.; in 2012, there were 87,377 newborns screened in Tennessee. The Association of Public Health Laboratories reports approximately one of every 800 screenings nationwide identifies a problem. Among the more common disorders identified are hearing loss, primary congenital hypothyroidism, cystic fibrosis and sickle-cell disease. Occasionally the screenings will find exceptionally rare genetic and metabolic conditions which, without early treatment, can cause a child to become mentally or physically challenged, or can be fatal.

To learn more about newborn screenings in Tennessee, visit http://health.state.tn.us/MCH/NBS.shtml.

The mission of the Tennessee Department of Health is to protect, promote and improve the health and prosperity of people in Tennessee. For more information about TDH services and programs, visit http://health.state.tn.us/.